Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: PA658800645

Gene: SCN4A HGNC NCBI

Linked Data

ClinVar Variation Id: 543806

ClinVar RCV Id: RCV000654658 RCV000764139 RCV002534210

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Amino-acid Alleles

HGVS (amino-acid)	Matching Registered Transcripts
NP_000325.4:p.Met1477Val	CA400616043 NM_000334.4:c.4429A>G